The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre
Authors' conclusion
CHH is a heterogeneous group of disorders, with varying prevalence of associated comorbidities according to diagnostic subtypes. Our data highlight the paediatric-specific modes of presentation of CHH, and in KS, the bimodal distribution of age at presentation in males and the under-representation and delayed diagnoses in females.
Study context
- Population
- Patients with congenital hypogonadotropic hypogonadism (CHH) seen at the Children's Hospital at Westmead, Australia, January 1994–December 2024; 66% male66% male
- Participants
- 96 patients
- Exposure
- Kallmann Syndrome (KS) vs Normosmic HH vs multiple pituitary hormone deficiencies (MPHD) vs Other syndromes
- KSn = 31
- MPHDn = 23
- Outcome
- Presentation of CHH by diagnostic subtype
Methodological detailssingle-centre, tertiary paediatric centre
- Single-centre
- Tertiary paediatric centre
Main finding
As reported in the abstract
- KS: presenting with micropenis and/or cryptorchidism
- 45%
- KS: presenting with pubertal delay
- 45%
- KS: first peak age of presentation, years (IQR 0.3-0.8)
- 0.6
- KS: second peak age of presentation, years (IQR 11.5-15.7)
- 14.6
- MPHD: presenting with neonatal hypoglycaemia
- 52%
Observational data: associations, not effects.
Further findings
Comorbidities by diagnostic subtype (KS, MPHD, other syndromes)
- Hearing impairment (KS, MPHD, other syndromes)
- 10%, 4%, 100%
- Visual impairment (KS, MPHD, other syndromes)
- 7%, 17%, 77%
- Cardiac anomalies (KS, MPHD, other syndromes)
- 3%, 9%, 77%
- Intellectual disability (KS, MPHD, other syndromes)
- 13%, 26%, 46%
Genetic testing
- Genetic testing performed in 1995-2009
- 32%
- Genetic testing performed in 2010-2024
- 66%
- Pathogenic HH-associated gene variants in those tested
- 61%
- CHD7
- n = 10
- ANOS1
- n = 4
- FGFR1
- n = 3
Pubertal induction
- Males: mean age at start, years (SD 1.6)
- 14.1
- Males: testosterone oral / intramuscular / subcutaneous
- 27 / 14 / 1
- Males: gonadotropins
- n = 5
- Females: mean age at start, years (SD 1.8)
- 14.6
- Females: oestradiol oral / transdermal (± progesterone)
- 21 / 8
Original publication
The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30‐Year Experience at a Tertiary Paediatric Centre. Clin Endocrinol (Oxf). Published 22 July 2026. doi:10.
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